Variant report

Variant	nsv457118
Chromosome Location	chr15:40565705-40606484
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2128)
CpG islands
(count:2320)
Chromatin interactive
region (count:110)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2128 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:40571722-40571899	HepG2	liver:	n/a	n/a
2	ATF1	chr15:40593699-40594081	K562	blood:	n/a	n/a
3	ATF1	chr15:40601117-40601377	K562	blood:	n/a	n/a
4	ATF1	chr15:40599810-40600059	K562	blood:	n/a	n/a
5	ATF2	chr15:40571544-40572046	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr15:40571588-40572191	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr15:40566807-40567199	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr15:40566894-40567242	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr15:40566795-40567223	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr15:40566936-40567189	HepG2	liver:	n/a	n/a
11	ATF3	chr15:40566958-40567199	K562	blood:	n/a	n/a
12	ATF3	chr15:40566817-40567206	A549	lung:	n/a	n/a
13	ATF3	chr15:40566980-40567108	GM12878	blood:	n/a	n/a
14	ATF3	chr15:40566793-40567181	GM12878	blood:	n/a	n/a
15	BACH1	chr15:40566961-40567210	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr15:40572585-40573004	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr15:40575867-40575959	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr15:40602273-40602494	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr15:40583322-40583631	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr15:40574230-40575035	H1-hESC	embryonic stem cell:	n/a	n/a
21	BCLAF1	chr15:40566841-40567208	GM12878	blood:	n/a	n/a
22	BCLAF1	chr15:40566774-40567287	GM12878	blood:	n/a	n/a
23	BHLHE40	chr15:40566891-40567243	GM12878	blood:	n/a	n/a
24	BHLHE40	chr15:40577219-40577549	K562	blood:	n/a	chr15:40577386-40577395 chr15:40577385-40577394 chr15:40577386-40577395 chr15:40577384-40577397 chr15:40577380-40577401
25	BHLHE40	chr15:40599913-40600103	K562	blood:	n/a	n/a
26	BHLHE40	chr15:40593649-40593931	K562	blood:	n/a	n/a
27	BHLHE40	chr15:40569617-40569957	GM12878	blood:	n/a	n/a
28	BHLHE40	chr15:40574294-40574494	K562	blood:	n/a	n/a
29	BHLHE40	chr15:40574722-40575324	K562	blood:	n/a	chr15:40574909-40574925
30	BHLHE40	chr15:40571550-40571932	K562	blood:	n/a	chr15:40571742-40571758
31	BHLHE40	chr15:40577413-40577416	GM12878	blood:	n/a	n/a
32	BHLHE40	chr15:40571630-40572014	HepG2	liver:	n/a	chr15:40571742-40571758
33	BHLHE40	chr15:40583254-40583763	K562	blood:	n/a	n/a
34	BHLHE40	chr15:40566851-40567224	K562	blood:	n/a	n/a
35	BHLHE40	chr15:40602314-40602559	K562	blood:	n/a	n/a
36	BHLHE40	chr15:40601027-40601313	K562	blood:	n/a	n/a
37	BHLHE40	chr15:40599950-40600005	GM12878	blood:	n/a	n/a
38	BHLHE40	chr15:40594665-40594943	K562	blood:	n/a	n/a
39	BRCA1	chr15:40573100-40573161	H1-hESC	embryonic stem cell:	n/a	n/a
40	BRCA1	chr15:40566906-40567205	H1-hESC	embryonic stem cell:	n/a	n/a
41	BRCA1	chr15:40602376-40602377	Hela-S3	cervix:	n/a	n/a
42	BRCA1	chr15:40571593-40571981	H1-hESC	embryonic stem cell:	n/a	n/a
43	BRCA1	chr15:40566889-40567232	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr15:40574445-40574470	HepG2	liver:	n/a	n/a
45	BRCA1	chr15:40602268-40602439	H1-hESC	embryonic stem cell:	n/a	n/a
46	BRCA1	chr15:40583557-40583611	Hela-S3	cervix:	n/a	n/a
47	BRCA1	chr15:40566836-40567216	GM12878	blood:	n/a	n/a
48	BRCA1	chr15:40571737-40571913	HepG2	liver:	n/a	n/a
49	CBX3	chr15:40574263-40574555	K562	blood:	n/a	n/a
50	CBX3	chr15:40602223-40602586	K562	blood:	n/a	n/a

(count:2320 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:40579351-40579401	HPAEpiC	pulmonary alveolar:	n/a
2	chr15:40600493-40600543	GM12892	blood:	n/a
3	chr15:40579351-40579401	HPAEpiC	pulmonary alveolar:	n/a
4	chr15:40600493-40600543	GM12892	blood:	n/a
5	chr15:40583422-40583472	Hepatocyte	liver:	n/a
6	chr15:40575431-40575481	HRE	kidney:	n/a
7	chr15:40568752-40568802	NH-A	brain:	n/a
8	chr15:40575730-40575780	CMK	blood:	n/a
9	chr15:40574697-40574747	NHDF-neo	bronchial:	n/a
10	chr15:40601467-40601517	ProgFib	skin:	n/a
11	chr15:40600099-40600149	AG09309	skin:	n/a
12	chr15:40583227-40583277	HCF	heart:	n/a
13	chr15:40583422-40583472	GM06990	blood:	n/a
14	chr15:40600099-40600149	SK-N-MC	brain:	n/a
15	chr15:40568143-40568193	HRPEpiC	eye:	n/a
16	chr15:40600265-40600315	HepG2	liver:	n/a
17	chr15:40575645-40575695	SK-N-MC	brain:	n/a
18	chr15:40574925-40574975	AG09309	skin:	n/a
19	chr15:40601467-40601517	RPTEC	kidney:	n/a
20	chr15:40579351-40579401	IMR90	lung:	fetal
21	chr15:40580770-40580820	PrEC	prostate:	n/a
22	chr15:40575730-40575780	GM19239	blood:	n/a
23	chr15:40580770-40580820	HEEpiC	esophagus:	n/a
24	chr15:40594732-40594782	GM12891	blood:	n/a
25	chr15:40583227-40583277	MCF10A-Er-Src	breast:	n/a
26	chr15:40580770-40580820	SK-N-MC	brain:	n/a
27	chr15:40579351-40579401	Jurkat	blood:	n/a
28	chr15:40575645-40575695	AG09319	gingival:	n/a
29	chr15:40601467-40601517	Jurkat	blood:	n/a
30	chr15:40600284-40600334	CMK	blood:	n/a
31	chr15:40572550-40572600	HNPCEpiC	eye:	n/a
32	chr15:40600284-40600334	Jurkat	blood:	n/a
33	chr15:40575431-40575481	T-47D	breast:	n/a
34	chr15:40566933-40566983	PANC-1	pancreas:	n/a
35	chr15:40573419-40573469	HUVEC	blood vessel:	n/a
36	chr15:40583241-40583291	MCF-7	breast:	n/a
37	chr15:40600284-40600334	SK-N-MC	brain:	n/a
38	chr15:40583241-40583291	AG09309	skin:	n/a
39	chr15:40575356-40575406	PFSK-1	brain:	n/a
40	chr15:40575730-40575780	NHDF-neo	bronchial:	n/a
41	chr15:40600279-40600329	HRE	kidney:	n/a
42	chr15:40572794-40572844	HepG2	liver:	n/a
43	chr15:40575431-40575481	Hela-S3	cervix:	n/a
44	chr15:40574697-40574747	SKMC	muscle:	n/a
45	chr15:40581105-40581155	ECC-1	luminal epithelium:	n/a
46	chr15:40570508-40570558	HIPEpiC	eye:	n/a
47	chr15:40600284-40600334	GM12892	blood:	n/a
48	chr15:40573419-40573469	SK-N-SH_RA	brain:	n/a
49	chr15:40600099-40600149	GM12878	blood:	n/a
50	chr15:40575645-40575695	K562	blood:	n/a

(count:110 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr15:40575404..40577527-chr15:40578874..40580653,2	MCF-7	breast:
2	chr15:40564122..40566181-chr15:40568293..40570201,2	K562	blood:
3	chr15:40571284..40573045-chr15:40595754..40597845,2	K562	blood:
4	chr15:40575404..40577527-chr15:40578874..40580653,2	MCF-7	breast:
5	chr15:40601564..40604029-chr15:40608282..40611704,3	K562	blood:
6	chr15:40571488..40572288-chr15:40601921..40602727,4	MCF-7	breast:
7	chr15:40597155..40599934-chr15:40605080..40607975,2	K562	blood:
8	chr15:40574554..40576537-chr15:40576629..40578391,2	K562	blood:
9	chr15:40531032..40531701-chr15:40566512..40567430,2	MCF-7	breast:
10	chr15:40586469..40589558-chr15:40593473..40595451,3	K562	blood:
11	chr15:40595653..40597229-chr15:40603420..40604994,2	K562	blood:
12	chr15:40588561..40590499-chr15:40591600..40593237,2	K562	blood:
13	chr15:40581027..40584497-chr15:40588911..40592089,3	MCF-7	breast:
14	chr15:40601542..40603378-chr15:40607620..40610047,2	MCF-7	breast:
15	chr15:40583247..40584804-chr15:40630582..40632469,2	MCF-7	breast:
16	chr15:40575377..40577430-chr15:40595263..40597103,2	K562	blood:
17	chr15:40572270..40573835-chr15:40597340..40599224,2	MCF-7	breast:
18	chr15:40571488..40572288-chr15:40601921..40602727,4	MCF-7	breast:
19	chr15:40582529..40584941-chr15:40594036..40597315,3	MCF-7	breast:
20	chr15:40596629..40600129-chr15:40604012..40607975,4	K562	blood:
21	chr15:40593194..40594991-chr15:40625827..40627495,2	K562	blood:
22	chr15:40582955..40585204-chr15:40588565..40592686,6	K562	blood:
23	chr15:40604227..40604812-chr15:40659800..40660618,2	MCF-7	breast:
24	chr15:40574576..40575096-chr15:40601978..40602927,2	MCF-7	breast:
25	chr15:40577767..40580856-chr15:40615734..40618359,3	K562	blood:
26	chr15:40567372..40572340-chr15:40598668..40601169,4	K562	blood:
27	chr15:40336985..40337912-chr15:40566972..40567506,2	MCF-7	breast:
28	chr15:40571308..40572301-chr15:40601892..40603242,9	K562	blood:
29	chr15:40582955..40584944-chr15:40588565..40590383,2	K562	blood:
30	chr15:40078495..40079355-chr15:40566600..40567596,4	K562	blood:
31	chr15:40336630..40337966-chr15:40566528..40567460,17	K562	blood:
32	chr15:40569275..40572340-chr15:40598555..40600997,3	K562	blood:
33	chr15:40578220..40580557-chr15:40586517..40588363,2	K562	blood:
34	chr15:40322252..40323110-chr15:40566583..40567527,5	K562	blood:
35	chr15:40578573..40580904-chr15:40592054..40595961,3	K562	blood:
36	chr15:40588561..40590499-chr15:40591600..40593237,2	K562	blood:
37	chr15:40579168..40581364-chr15:40581979..40583976,2	MCF-7	breast:
38	chr15:40509342..40510064-chr15:40566620..40567261,2	MCF-7	breast:
39	chr15:40078638..40079472-chr15:40566591..40567310,2	MCF-7	breast:
40	chr15:40513371..40515548-chr15:40567016..40569593,2	K562	blood:
41	chr15:40580757..40582494-chr15:40588755..40591598,2	K562	blood:
42	chr15:40566616..40567536-chr15:40575443..40576329,2	K562	blood:
43	chr15:40602041..40603902-chr15:40615864..40618409,2	K562	blood:
44	chr15:40566645..40567517-chr15:40601865..40602542,3	K562	blood:
45	chr15:40571419..40572182-chr15:40629949..40630680,2	MCF-7	breast:
46	chr15:40507899..40511190-chr15:40564977..40567533,3	MCF-7	breast:
47	chr15:40586469..40589558-chr15:40593473..40595451,3	K562	blood:
48	chr15:40580757..40582494-chr15:40588755..40591598,2	K562	blood:
49	chr15:40567044..40569798-chr15:40602403..40604424,2	K562	blood:
50	chr15:40509144..40510009-chr15:40601917..40602437,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLCB2-1	chr15:40570463-40570678	expReg_chr15_2151_-
2	lnc-PAK6-1	chr15:40593810-40594021	ENSG00000259307.1
3	lnc-PLCB2-1	chr15:40581473-40581773	NONHSAT041820
4	lnc-PAK6-1	chr15:40592871-40593226	ENSG00000259307.1
5	lnc-PLCB2-1	chr15:40570377-40570545	NONHSAT041820
6	lnc-PLCB2-1	chr15:40576640-40576732	NONHSAT041820

No data

Variant related genes	Relation type
PLCB2	TF binding region
ANKRD63	TF binding region
PLCB2-AS1	TF binding region
PAK6	TF binding region
ENSG00000259198	TF binding region
ENSG00000244705	TF binding region
PLCB2	CpG island
ANKRD63	CpG island
PLCB2-AS1	CpG island
PAK6	CpG island
ENSG00000259198	CpG island
ENSG00000244705	CpG island
ENSG00000188549	chromatin interactions
ENSG00000165417	chromatin interactions
ENSG00000259198	chromatin interactions
ENSG00000156970	chromatin interactions
ENSG00000128829	chromatin interactions
ENSG00000214128	chromatin interactions
ENSG00000137843	chromatin interactions
ENSG00000140323	chromatin interactions
ENSG00000259714	chromatin interactions
ENSG00000137841	chromatin interactions
ENSG00000259368	chromatin interactions
ENSG00000244705	chromatin interactions
ENSG00000105929	chromatin interactions
ENSG00000230778	chromatin interactions
ENSG00000259307	chromatin interactions
ENSG00000259288	chromatin interactions
ENSG00000259330	chromatin interactions

Extended variants
information (count: 1730 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1730 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs936214	chr15:40565705-40565706	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs368879012	chr15:40565706-40565707	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs530025435	chr15:40565730-40565731	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs200620273	chr15:40565735-40565736	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs376491276	chr15:40565742-40565743	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs546432293	chr15:40565744-40565745	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs373086987	chr15:40565756-40565757	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs199802493	chr15:40565787-40565788	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs113493588	chr15:40565789-40565790	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs201198106	chr15:40565796-40565797	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs141761526	chr15:40565797-40565798	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs35644942	chr15:40565817-40565818	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs552754275	chr15:40565847-40565848	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs375011877	chr15:40565880-40565881	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs374039552	chr15:40565895-40565896	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs35668022	chr15:40565896-40565897	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs200514442	chr15:40565898-40565899	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs374371997	chr15:40565899-40565900	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs201318865	chr15:40565904-40565905	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs371770070	chr15:40565914-40565915	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs200563236	chr15:40565916-40565917	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs200071360	chr15:40565920-40565921	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs376395068	chr15:40565927-40565928	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs553933380	chr15:40565993-40565994	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs539140709	chr15:40566018-40566019	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs577068747	chr15:40566037-40566038	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs181472960	chr15:40566099-40566100	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs545852070	chr15:40566152-40566153	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs185561499	chr15:40566154-40566155	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs530998214	chr15:40566155-40566156	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs575312757	chr15:40566168-40566169	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs543835657	chr15:40566199-40566200	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs560943227	chr15:40566258-40566259	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs574604636	chr15:40566261-40566262	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs540561428	chr15:40566262-40566263	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs367906463	chr15:40566286-40566287	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs368574907	chr15:40566306-40566307	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs149385124	chr15:40566363-40566364	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs147489955	chr15:40566380-40566381	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs564064166	chr15:40566386-40566387	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs74468066	chr15:40566421-40566422	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs139943572	chr15:40566432-40566433	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs201804704	chr15:40566435-40566436	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs143844489	chr15:40566440-40566441	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs375706027	chr15:40566441-40566442	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs551636912	chr15:40566444-40566445	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs56111625	chr15:40566462-40566463	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs371992889	chr15:40566472-40566473	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs13379713	chr15:40566494-40566495	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs552690811	chr15:40566499-40566500	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21129771	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2084 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40546000-40571800	Weak transcription	Right Ventricle	heart
2	chr15:40546200-40568200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr15:40550000-40568000	Weak transcription	Spleen	Spleen
4	chr15:40550400-40566800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr15:40551400-40571000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:40553800-40570400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:40555400-40566600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr15:40556200-40567400	Strong transcription	Fetal Intestine Small	intestine
9	chr15:40556200-40567600	Weak transcription	Colonic Mucosa	Colon
10	chr15:40557000-40568200	Weak transcription	Lung	lung
11	chr15:40557200-40571800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:40557400-40566800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr15:40559000-40570000	Weak transcription	Brain Anterior Caudate	brain
14	chr15:40559200-40568000	Weak transcription	Brain Germinal Matrix	brain
15	chr15:40559200-40570000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr15:40559400-40570200	Weak transcription	Brain Angular Gyrus	brain
17	chr15:40559400-40571600	Weak transcription	Brain Hippocampus Middle	brain
18	chr15:40559600-40567200	Weak transcription	Stomach Mucosa	stomach
19	chr15:40559600-40568800	Weak transcription	Fetal Brain Female	brain
20	chr15:40559600-40569000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:40559600-40569200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr15:40559600-40570000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:40559600-40570400	Strong transcription	Esophagus	oesophagus
24	chr15:40559600-40571800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr15:40559800-40567000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr15:40560200-40566600	Weak transcription	K562	blood
27	chr15:40560200-40568200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr15:40560400-40566600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr15:40560600-40567200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr15:40560600-40567200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr15:40560800-40571800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:40561800-40567200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr15:40562200-40566800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr15:40562600-40567000	Strong transcription	HMEC	breast
35	chr15:40562800-40566400	Strong transcription	Placenta	Placenta
36	chr15:40564400-40566600	Strong transcription	Pancreas	Pancrea
37	chr15:40564400-40568000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr15:40564400-40569400	Strong transcription	NHEK	skin
39	chr15:40564600-40565800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:40564600-40566000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr15:40564600-40566200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr15:40564600-40566400	Strong transcription	Gastric	stomach
43	chr15:40564600-40566800	Weak transcription	Liver	Liver
44	chr15:40564800-40565800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr15:40565200-40566200	Strong transcription	Fetal Stomach	stomach
46	chr15:40565200-40566600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr15:40565400-40567000	Strong transcription	Fetal Intestine Large	intestine
48	chr15:40565600-40565800	Flanking Bivalent TSS/Enh	HepG2	liver
49	chr15:40565600-40566600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr15:40565600-40571800	Weak transcription	Right Atrium	heart

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